Bare Lymphocyte Syndrome, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BLS1 MCID: BRL011 MIFTS: 41	Bare Lymphocyte Syndrome, Type I (BLS1) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I ⁵⁷ ¹³ ⁷³

Hla Class I Deficiency ⁵⁷ ¹² ²⁵ ⁷⁵ ⁵⁵

Bare Lymphocyte Syndrome Type I ¹² ²⁵

Mhc Class I Deficiency ¹² ¹⁵

Bls, Type I ⁵⁷ ¹²

Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency ⁵⁷

Major Histocompatibility Complex Class 1 Deficiency ⁵³

Bare Lymphocyte Syndrome 1 ⁷⁵

Mhc Class 1 Deficiency ⁵³

Bls Type I ⁷⁵

Bls I ⁷⁵

Blsi ¹²

Bls1 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy

HPO:

³²

bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Gastrointestinal diseases Blood diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Major histocompatibility complex class I deficiency

External Ids:

OMIM ⁵⁷ 604571

Disease Ontology ¹² DOID:0060009

MedGen ⁴² C1858266

MeSH ⁴⁴ D007153

ICD10 ³³ D81.6

SNOMED-CT via HPO ⁶⁹ 258211005 21186006 74969002 more

UMLS ⁷³ C1858266

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Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : ²⁵ Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to bare lymphocyte syndrome, type ii and orbital melanoma. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Allograft rejection. Affiliated tissues include lung, skin and t cells, and related phenotypes are chronic otitis media and emphysema

UniProtKB/Swiss-Prot : ⁷⁵ Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

Description from OMIM: 604571

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Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	bare lymphocyte syndrome, type ii	29.5	RFX5 RFXANK RFXAP TAP2
2	orbital melanoma	10.1	TAP1 TAPBP
3	melanoma	10.1
4	idiopathic bronchiectasis	10.0	TAP1 TAP2
5	bronchiectasis	10.0
6	panbronchiolitis, diffuse	10.0
7	immunodeficiency by defective expression of hla class 1	9.9	TAP1 TAP2 TAPBP
8	combined t cell and b cell immunodeficiency	9.9	RFX5 RFXAP
9	lung cancer susceptibility 3	9.9
10	adenocarcinoma	9.9
11	spondylitis	9.9	TAP1 TAP2
12	mature b-cell neoplasm	9.8	CD40 RFXANK
13	severe combined immunodeficiency	9.7	RFX5 RFXANK RFXAP

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:

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Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
bronchiolitis
more

Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Clinical features from OMIM:

604571

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

³² (show all 9)

#	Description	HPO Source Accession
1	chronic otitis media ³²	HP:0000389
2	emphysema ³²	HP:0002097
3	skin ulcer ³²	HP:0200042
4	ectopia lentis ³²	HP:0001083
5	nasal polyposis ³²	HP:0100582
6	bronchiectasis ³²	HP:0002110
7	chronic sinusitis ³²	HP:0011109
8	recurrent bronchitis ³²	HP:0002837
9	bronchiolitis ³²	HP:0011950

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Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

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Genetic Tests for Bare Lymphocyte Syndrome, Type I

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Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

⁴¹

Lung, Skin, T Cells, B Cells

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Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

#	Title	Authors	Year
1	HLA class I deficiency as an additional cause of bronchiectasis. ( 26172480 )	Zimmer J...Ollert M	2015
2	HLA class I deficiency as an additional cause of bronchiectasis - Reply. ( 26172572 )	Guan WJ...Zhong NS	2015
3	HLA class I deficiency syndrome mimicking Wegener's granulomatosis. ( 18668571 )		2008
4	Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ( 17879436 )	de la Salle H...Ikinciogullari A	2007
5	Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ( 17879452 )	de la Salle H...Hogan P	2007
6	Clinical and immunological aspects of HLA class I deficiency. ( 16087697 )	Zimmer J....de la Salle H.	2005
7	Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )		2001
8	Granulomatous disease associated with HLA class I deficiency. ( 11298563 )	Hauser C	2001
9	Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )		1999
10	Homozygous human TAP peptide transporter mutation in HLA class I deficiency. ( 7517574 )	de la Salle H....Tongio M.-M.	1994

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Genes for Bare Lymphocyte Syndrome, Type I

Genes related to Bare Lymphocyte Syndrome, Type I (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TAPBP	TAP Binding Protein	Protein Coding	925.84	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	12149238
2	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	925.45	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10074495
3	TAP2	Transporter 2, ATP Binding Cassette Subfamily B Member	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁶
4	RFXAP	Regulatory Factor X Associated Protein	Protein Coding	16.4	DISEASES inferred ¹⁵
5	RFX5	Regulatory Factor X5	Protein Coding	16.15	DISEASES inferred ¹⁵
6	KLRC1	Killer Cell Lectin Like Receptor C1	Protein Coding	14.97	DISEASES inferred ¹⁵
7	RFXANK	Regulatory Factor X Associated Ankyrin Containing Protein	Protein Coding	14.88	DISEASES inferred ¹⁵
8	CD40	CD40 Molecule	Protein Coding	14.44	DISEASES inferred ¹⁵

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Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

⁶ (show top 50) (show all 216)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TAPBP	TAPBP, 7.4-KB DEL	deletion	Pathogenic
2	TAP2	NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr)	single nucleotide variant	Benign	rs241447	GRCh37	Chromosome 6, 32796751: 32796751
3	TAP2	NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr)	single nucleotide variant	Benign	rs241447	GRCh38	Chromosome 6, 32828974: 32828974
4	TAP2	NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter)	single nucleotide variant	Benign	rs241448	GRCh37	Chromosome 6, 32796685: 32796685
5	TAP2	NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter)	single nucleotide variant	Benign	rs241448	GRCh38	Chromosome 6, 32828908: 32828908
6	TAP2	TAP2, ARG253TER	single nucleotide variant	Pathogenic
7	TAP2	TAP2, 1-BP DEL	deletion	Pathogenic
8	TAP1	NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln)	single nucleotide variant	Uncertain significance	rs121917702	GRCh37	Chromosome 6, 32814909: 32814909
9	TAP1	NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln)	single nucleotide variant	Uncertain significance	rs121917702	GRCh38	Chromosome 6, 32847132: 32847132
10	TAP1	TAP1, IVS1, G-A, -1	single nucleotide variant	Pathogenic
11	TAP2	NM_000544.3(TAP2): c.44T> C (p.Val15Ala)	single nucleotide variant	Benign/Likely benign	rs55827768	GRCh37	Chromosome 6, 32805967: 32805967
12	TAP2	NM_000544.3(TAP2): c.44T> C (p.Val15Ala)	single nucleotide variant	Benign/Likely benign	rs55827768	GRCh38	Chromosome 6, 32838190: 32838190
13	TAP2	NM_000544.3(TAP2): c.918G> A (p.Ala306=)	single nucleotide variant	Benign	rs556799828	GRCh37	Chromosome 6, 32802958: 32802958
14	TAP2	NM_000544.3(TAP2): c.658C> A (p.Arg220=)	single nucleotide variant	Benign	rs142794316	GRCh38	Chromosome 6, 32835724: 32835724
15	TAP2	NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile)	indel	Benign	rs369909014	GRCh38	Chromosome 6, 32830680: 32830681
16	TAP2	NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile)	indel	Benign	rs369909014	GRCh37	Chromosome 6, 32798457: 32798458
17	TAP2	NM_000544.3(TAP2): c.1147C> T (p.Leu383=)	single nucleotide variant	Likely benign	rs761704456	GRCh37	Chromosome 6, 32800235: 32800235
18	TAP2	NM_000544.3(TAP2): c.1147C> T (p.Leu383=)	single nucleotide variant	Likely benign	rs761704456	GRCh38	Chromosome 6, 32832458: 32832458
19	TAP2	NM_000544.3(TAP2): c.918G> A (p.Ala306=)	single nucleotide variant	Benign	rs556799828	GRCh38	Chromosome 6, 32835181: 32835181
20	TAP2	NM_000544.3(TAP2): c.658C> A (p.Arg220=)	single nucleotide variant	Benign	rs142794316	GRCh37	Chromosome 6, 32803501: 32803501
21	TAP2	NM_000544.3(TAP2): c.222C> A (p.Pro74=)	single nucleotide variant	Benign	rs2229526	GRCh37	Chromosome 6, 32805789: 32805789
22	TAP2	NM_000544.3(TAP2): c.222C> A (p.Pro74=)	single nucleotide variant	Benign	rs2229526	GRCh38	Chromosome 6, 32838012: 32838012
23	TAP1	NM_000593.5(TAP1): c.2163G> A (p.Pro721=)	single nucleotide variant	Benign	rs41551515	GRCh37	Chromosome 6, 32814902: 32814902
24	TAP1	NM_000593.5(TAP1): c.2163G> A (p.Pro721=)	single nucleotide variant	Benign	rs41551515	GRCh38	Chromosome 6, 32847125: 32847125
25	TAP1	NM_000593.5(TAP1): c.919G> A (p.Gly307Arg)	single nucleotide variant	Uncertain significance	rs59328013	GRCh38	Chromosome 6, 32852214: 32852214
26	TAP1	NM_000593.5(TAP1): c.919G> A (p.Gly307Arg)	single nucleotide variant	Uncertain significance	rs59328013	GRCh37	Chromosome 6, 32819991: 32819991
27	TAP1	NM_000593.5(TAP1): c.229G> C (p.Gly77Arg)	single nucleotide variant	Benign	rs57640466	GRCh37	Chromosome 6, 32821365: 32821365
28	TAP1	NM_000593.5(TAP1): c.229G> C (p.Gly77Arg)	single nucleotide variant	Benign	rs57640466	GRCh38	Chromosome 6, 32853588: 32853588
29	TAPBP	NM_003190.4(TAPBP): c.972G> A (p.Gly324=)	single nucleotide variant	Benign	rs61739590	GRCh38	Chromosome 6, 33304535: 33304535
30	TAPBP	NM_003190.4(TAPBP): c.972G> A (p.Gly324=)	single nucleotide variant	Benign	rs61739590	GRCh37	Chromosome 6, 33272312: 33272312
31	TAPBP	NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser)	single nucleotide variant	Uncertain significance	rs561629511	GRCh38	Chromosome 6, 33305295: 33305295
32	TAPBP	NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser)	single nucleotide variant	Uncertain significance	rs561629511	GRCh37	Chromosome 6, 33273072: 33273072
33	TAP2	NM_000544.3(TAP2): c.1826C> T (p.Ala609Val)	single nucleotide variant	Benign	rs74770812	GRCh38	Chromosome 6, 32829506: 32829506
34	TAP2	NM_000544.3(TAP2): c.1826C> T (p.Ala609Val)	single nucleotide variant	Benign	rs74770812	GRCh37	Chromosome 6, 32797283: 32797283
35	TAP2	NM_000544.3(TAP2): c.1161G> A (p.Val387=)	single nucleotide variant	Benign	rs2856992	GRCh37	Chromosome 6, 32800221: 32800221
36	TAP2	NM_000544.3(TAP2): c.1161G> A (p.Val387=)	single nucleotide variant	Benign	rs2856992	GRCh38	Chromosome 6, 32832444: 32832444
37	TAP2	NM_000544.3(TAP2): c.1144-6_1144-5delinsAC	indel	Benign	rs386699797	GRCh37	Chromosome 6, 32800243: 32800244
38	TAP2	NM_000544.3(TAP2): c.1144-6_1144-5delinsAC	indel	Benign	rs386699797	GRCh38	Chromosome 6, 32832466: 32832467
39	TAP2	NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr)	single nucleotide variant	Benign	rs111303994	GRCh38	Chromosome 6, 32832650: 32832650
40	TAP2	NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr)	single nucleotide variant	Benign	rs111303994	GRCh37	Chromosome 6, 32800427: 32800427
41	TAP2	NM_000544.3(TAP2): c.4C> T (p.Arg2Trp)	single nucleotide variant	Benign	rs61736918	GRCh38	Chromosome 6, 32838230: 32838230
42	TAP2	NM_000544.3(TAP2): c.4C> T (p.Arg2Trp)	single nucleotide variant	Benign	rs61736918	GRCh37	Chromosome 6, 32806007: 32806007
43	TAP1	NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Benign	rs1057149	GRCh38	Chromosome 6, 32847165: 32847165
44	TAP1	NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Benign	rs1057149	GRCh37	Chromosome 6, 32814942: 32814942
45	TAP1	NM_000593.5(TAP1): c.1732G> A (p.Val578Ile)	single nucleotide variant	Benign	rs41561219	GRCh37	Chromosome 6, 32816443: 32816443
46	TAP1	NM_000593.5(TAP1): c.1732G> A (p.Val578Ile)	single nucleotide variant	Benign	rs41561219	GRCh38	Chromosome 6, 32848666: 32848666
47	TAP1	NM_000593.5(TAP1): c.1552G> T (p.Val518Leu)	single nucleotide variant	Benign	rs41550019	GRCh37	Chromosome 6, 32816772: 32816772
48	TAP1	NM_000593.5(TAP1): c.1552G> T (p.Val518Leu)	single nucleotide variant	Benign	rs41550019	GRCh38	Chromosome 6, 32848995: 32848995
49	TAP1	NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys)	single nucleotide variant	Benign	rs2228110	GRCh37	Chromosome 6, 32816889: 32816889
50	TAP1	NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys)	single nucleotide variant	Benign	rs2228110	GRCh38	Chromosome 6, 32849112: 32849112

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Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

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Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	12.94	CD40 KLRC1 TAP1 TAP2 TAPBP
2	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.3	CD40 KLRC1 RFX5 RFXANK RFXAP TAP1
3	Antigen processing-Cross presentation ⁶⁶ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁶ Endosomal/Vacuolar pathway ⁶⁶ ER-Phagosome pathway ⁶⁶ Immune response Antigen presentation by MHC class I ²²	12.03	TAP1 TAP2 TAPBP
4	Epstein-Barr virus infection ³⁷	11.86	CD40 TAP1 TAP2 TAPBP
5	Tuberculosis ³⁷	11.75	RFX5 RFXANK RFXAP
6	Antigen Presentation- Folding, assembly and peptide loading of class I MHC ⁶⁶	10.73	TAP1 TAP2 TAPBP
7	Primary immunodeficiency ³⁷	10.67	CD40 RFX5 RFXANK RFXAP TAP1 TAP2

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GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phagocytic vesicle membrane	GO:0030670	9.43	TAP1 TAP2 TAPBP
2	endoplasmic reticulum-Golgi intermediate compartment membrane	GO:0033116	9.33	TAP1 TAP2 TAPBP
3	integral component of endoplasmic reticulum membrane	GO:0030176	9.32	TAP1 TAP2
4	TAP complex	GO:0042825	8.96	TAP1 TAP2
5	MHC class I peptide loading complex	GO:0042824	8.8	TAP1 TAP2 TAPBP

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex assembly	GO:0065003	9.43	CD40 TAPBP
2	antigen processing and presentation of peptide antigen via MHC class I	GO:0002474	9.43	TAP1 TAP2 TAPBP
3	peptide transport	GO:0015833	9.4	TAP1 TAP2
4	amide transport	GO:0042886	9.37	TAP1 TAPBP
5	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.33	TAP1 TAP2 TAPBP
6	cytosol to ER transport	GO:0046967	9.32	TAP1 TAP2
7	antigen processing and presentation of endogenous peptide antigen via MHC class I	GO:0019885	9.13	TAP1 TAP2 TAPBP
8	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	GO:1990668	8.8	TAP1 TAP2 TAPBP

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	9.46	TAP1 TAP2
2	peptide antigen binding	GO:0042605	9.43	TAP1 TAPBP
3	MHC class I protein binding	GO:0042288	9.4	TAP1 TAPBP
4	MHC protein binding	GO:0042287	9.37	TAP1 TAP2
5	peptide transmembrane transporter activity	GO:1904680	9.32	TAP1 TAP2
6	MHC class Ib protein binding	GO:0023029	9.26	TAP1 TAP2
7	TAP2 binding	GO:0046979	9.16	TAP1 TAPBP
8	TAP1 binding	GO:0046978	9.13	TAP1 TAP2 TAPBP
9	peptide antigen-transporting ATPase activity	GO:0015433	8.8	TAP1 TAP2 TAPBP

Sources

Sources for Bare Lymphocyte Syndrome, Type I

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Bare Lymphocyte Syndrome, Type I (BLS1)

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bare Lymphocyte Syndrome, Type I

Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

Genes for Bare Lymphocyte Syndrome, Type I

Genes related to Bare Lymphocyte Syndrome, Type I (3 elite genes):

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

Expression for Bare Lymphocyte Syndrome, Type I

Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

Sources for Bare Lymphocyte Syndrome, Type I